Genetics Notes

Who is Gregor Mendel? Father of Genetics Principle of Independent Assortment Inheritance of one trait has no effect on the inheritance of another trait

Traits
Genetics study of how traits are passed from parent to offspring

 Traits are determined by the genes on the chromosomes. A gene is a segment of DNA that determines a trait.

Structure of RNA
Single stranded

Ribose Sugar
5 carbon sugar Phosphate group Adenine, Uracil, Cytosine, Guanine

Types of RNA
Three main types Messenger RNA (mRNA) transfers DNA code to

ribosomes for translation. Transfer RNA (tRNA) brings amino acids to ribosomes for protein synthesis. Ribosomal RNA (rRNA) Ribosomes are made of rRNA and protein.

Transcription
RNA molecules are produced by copying part

of the nucleotide sequence of DNA into complementary sequence in RNA, a process called transcription. During transcription, RNA polymerase binds to DNA and separates the DNA strands. RNA polymerase then uses one strand of DNA as a template from which nucleotides are assembled into a strand of mRNA.

How Does it Work?

RNA Polymerase looks for a region on the DNA

known as a promoter, where it binds and begins transcription. RNA strands are then edited. Some parts are removed (introns) - which are not expressed and other that are left are called exons or expressed genes.

The Genetic Code

This is the language of mRNA.
Based on the 4 bases of mRNA. Words are 3 RNA sequences called codons. The strand aaacguucgccc would be separated as

aaa-cgu-ucg-ccc the amino acids would then be Lysine Arginine Serine - Proline

Translation
During translation, the cell uses information

from messenger RNA to produce proteins. A Transcription occurs in nucleus. B mRNA moves to the cytoplasm then to the ribosomes. tRNA read the mRNA and obtain the amino acid coded for. C Ribosomes attach amino acids together forming a polypeptide chain. D Polypeptide chain keeps growing until a stop codon is reached.

 Chromosomes come in homologous pairs, thus genes come in pairs. Homologous pairs matching genes one from female parent and one from male parent

Example: Humans have 46 chromosomes or 23 pairs. One set from dad 23 in sperm One set from mom 23 in egg

 One pair of Homologous Chromosomes:

Gene for eye color (blue eyes) Homologous pair of chromosomes Gene for eye color (brown eyes) Alleles different genes (possibilities) for the same trait ex: blue eyes or brown eyes

Dominant and Recessive Genes

Gene that prevents the other gene from showing dominant Gene that does NOT show even though it is present recessive

Symbol Dominant gene upper case letter T Recessive gene lower case letter t

Dominant color

Recessiv e color

 Both genes of a pair are the same homozygous or purebred TT homozygous dominant tt homozygous recessive One dominant and one recessive gene heterozygous or hybrid Tt heterozygous
BB Black Bb Black w/ white gene

bb White

Genotype and Phenotype

Combination of genes an organism has (actual gene makeup) genotype Ex: TT, Tt, tt Physical appearance resulting from gene make-up phenotype Ex: hitchhikers thumb or straight thumb

Punnett Square and Probability

Used to predict the possible gene makeup of offspring Punnett Square Example: Black fur (B) is dominant to white fur (b) in mice
1. Cross a heterozygous male with a homozygous recessive female.

Black fur (B)

Heterozygous male White fur (b)

White fur (b)

Homozygous recessive female White fur (b)

Male = Bb X Female = bb
b
Male gametes - N (One gene in sperm)

b Bb bb

Female gametes N (One gene in egg)

B
b

Bb bb

Possible offspring 2N

Write the ratios in the following orders: Genotypic ratio = 2 Bb : 2 bb 50% Bb : 50% bb

Phenotypic ratio = 2 black : 2 white 50% black : 50% white Phenotypic ratio dominant : recessive

Genotypic ratio homozygous : heterozygous : homozygous dominant recessive

Example: A man and woman, both with brown eyes (B) marry and have a blue eyed (b) child. What are the genotypes of the man, woman and child?

Bb X Bb Man = Bb Woman = Bb B b B b

BB
Bb

Bb
bb

Sex Determination
People 46 chromosomes or 23 pairs 22 pairs are homologous (look alike) called autosomes determine body traits 1 pair is the sex chromosomes determines sex (male or female) Females sex chromosomes are homologous (look alike) label XX Males sex chromosomes are different label XY

Incomplete dominance and Codominance

When one allele is NOT completely dominant over another (they blend) incomplete dominance Example: In carnations the color red (R) is incompletely dominant over white (W). The hybrid color is pink. Give the genotypic and phenotypic ratio from a cross between 2 pink flowers. RW X RW

RR RW

W RW WW
Genotypic = 1 RR : 2 RW : 1 WW Phenotypic = 1 red : 2 pink : 1 white

Sex linked Traits Genes for these traits are located only on the X chromosome (NOT on the Y chromosome)

X linked alleles always show up in males whether dominant or recessive because males have only one X chromosome

 Examples of recessive sex-linked disorders:

1. colorblindness inability to distinguish between certain colors

You should see 58 (upper left), 18 (upper right), E (lower left) and 17 (lower right).

Color blindness is the inability to distinguish the differences between certain colors. The most common type is red-green color blindness, where red and green are seen as the same color.

2. hemophilia blood wont clot

Mutations Mutation sudden genetic change (change in base pair sequence of DNA) Can be : Harmful mutations organism less able to survive: genetic disorders, cancer, death Beneficial mutations allows organism to better survive: provides genetic variation Neutral mutations neither harmful nor helpful to organism Mutations can occur in 2 ways: chromosomal mutation or gene/point mutation

Chromosomal mutation: less common than a gene mutation more drastic affects entire chromosome, so affects many genes rather than just one caused by failure of the homologous chromosomes to separate normally during meiosis chromosome pairs no longer look the same too few or too many genes, different shape

 Examples: Downs syndrome (Trisomy 21) 47 chromosomes, extra chromosome at pair #21

Turners syndrome only 45 chromosomes, missing a sex chromosome (X) Girls affected short, slow growth, heart problems

Klinefelters syndrome 47 chromosomes, extra X chromosomes (XXY) Boys affected low testosterone levels, underdeveloped muscles, sparse facial hair

 Having an extra set of chromosomes is fatal in animals, but in plants it makes them larger and hardier.

Hardier

Gene or Point Mutation most common and least drastic only one gene is altered

 Examples: Recessive gene mutations: Sickle cell anemia red blood cells are sickle shaped instead of round and cannot carry enough oxygen to the body tissues heterozygous condition protects people from malaria

Cystic fibrosis mucous builds up in the lungs

Tay-Sachs Disease deterioration of the nervous system early death

Mutated genes produce enzymes that are less effective than normal at breaking down fatty cell products known as gangliosides. As a result, gangliosides build up in the lysosomes and overload cells. Their buildup ultimately causes damage to nerve cells.

Phenylketonuria (PKU) an amino acid common in milk cannot be broken down and as it builds up it causes mental retardation newborns are tested for this

Dominant gene mutations: Huntingtons disease gradual deterioration of brain tissue, shows up in middle age and is fatal

Dwarfism variety of skeletal abnormalities

Detecting Genetic Disorders picture of an individuals chromosomes karyotype amniotic fluid surrounding the embryo is removed for analysis amniocentesis

Female with Downs syndrome